A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study

Monogenic Autoimmunity

(2012) Mickie H. Cheng et al.   Annual Review of Immunology

Type I interferons in Sjögren's syndrome

(2012) Yihong Yao et al.   AUTOIMMUNITY REVIEWS

Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome

(2012) V. Tüngler et al.   BRITISH JOURNAL OF DERMATOLOGY

Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing

(2012) K. Izawa et al.   DNA RESEARCH

Autoimmunity Initiates in Nonhematopoietic Cells and Progresses via Lymphocytes in an Interferon-Dependent Autoimmune Disease

(2012) Alevtina Gall et al.   IMMUNITY

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

(2012) Gillian I Rice et al.   NATURE GENETICS

Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus

(2012) J. Abe et al.   RHEUMATOLOGY

Type I interferonopathies: a novel set of inborn errors of immunity

(2011) Yanick J. Crow   Annals of the New York Academy of Sciences

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative study

(2011) Naoko Tanaka et al.   ARTHRITIS AND RHEUMATISM

Aicardi-Goutieres syndrome: from patients to genes and beyond

(2011) C Chahwan et al.   CLINICAL GENETICS

Defects in DNA degradation revealed in crystal structures of TREX1 exonuclease mutations linked to autoimmune disease

(2011) Suzanna L. Bailey et al.   DNA REPAIR

Dominant Mutations of the TREX1 Exonuclease Gene in Lupus and Aicardi-Goutières Syndrome

(2011) Jason M. Fye et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The TREX1 Exonuclease R114H Mutation in Aicardi-Goutières Syndrome and Lupus Reveals Dimeric Structure Requirements for DNA Degradation Activity

(2011) Clinton D. Orebaugh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Aicardi-Goutières Syndrome and Systemic Lupus Erythematosus (SLE) in a 12-Year-Old Boy With SAMHD1 Mutations

(2011) Georgia Ramantani et al.   JOURNAL OF CHILD NEUROLOGY

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

(2010) Georgia Ramantani et al.   ARTHRITIS AND RHEUMATISM

New roles for the major human 3′-5′ exonuclease TREX1 in human disease

(2010) David Kavanagh et al.   CELL CYCLE

The interferon-α signature of systemic lupus erythematosus

(2010) G. Obermoser et al.   LUPUS

Aicardi-Goutieres syndrome

(2009) S. Orcesi et al.   BRITISH MEDICAL BULLETIN

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

(2009) Gillian I Rice et al.   NATURE GENETICS

Trex1 Prevents Cell-Intrinsic Initiation of Autoimmunity

(2008) Daniel B. Stetson et al.   CELL

The TREX1 Double-stranded DNA Degradation Activity Is Defective in Dominant Mutations Associated with Autoimmune Disease

(2008) Duane A. Lehtinen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural and biochemical studies of TREX1 inhibition by metals. Identification of a new active histidine conserved in DEDDh exonucleases

(2008) Marina Brucet et al.   PROTEIN SCIENCE